ClinVar

NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165354267 (on Assembly GRCh38)
• Chr2: 166210777 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)

Other names:

p.E999K:GAA>AAA

HGVS:

• NC_000002.12:g.165354267G>A
• NG_008143.1:g.119866G>A
• NM_001040142.2:c.2995G>AMANE SELECT
• NM_001040143.2:c.2995G>A
• NM_001371246.1:c.2995G>A
• NM_001371247.1:c.2995G>A
• NM_021007.3:c.2995G>A
• NP_001035232.1:p.Glu999Lys
• NP_001035233.1:p.Glu999Lys
• NP_001358175.1:p.Glu999Lys
• NP_001358176.1:p.Glu999Lys
• NP_066287.2:p.Glu999Lys
• NP_066287.2:p.Glu999Lys
• NC_000002.11:g.166210777G>A
• NM_001040142.1:c.2995G>A
• NM_021007.2:c.2995G>A
• Q99250:p.Glu999Lys

This HGVS expression did not pass validation

Protein change:

E999K

Links:

UniProtKB: Q99250#VAR_070003; dbSNP: rs796053126

Molecular consequence:

• NM_001040142.2:c.2995G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040143.2:c.2995G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371246.1:c.2995G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371247.1:c.2995G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021007.3:c.2995G>A - missense variant - [Sequence Ontology: SO:0001583]